作者: Steven A McCarroll , David M Altshuler
DOI: 10.1038/NG2080
关键词: Genotyping 、 Single-nucleotide polymorphism 、 Copy-number variation 、 Disease 、 Human genetics 、 Phenotype 、 Genetic association 、 Mendelian inheritance 、 Genetics 、 Biology
摘要: … information about inherited copy-number variation, indicate the importance of systematically assessing copy-number variants (CNVs), including common copy-number polymorphisms (…